scholarly journals Do Children With Fragile X Syndrome Show Declines or Plateaus in Adaptive Behavior?

2015 ◽  
Vol 120 (5) ◽  
pp. 412-432 ◽  
Author(s):  
Laura J. Hahn ◽  
Nancy C. Brady ◽  
Steven F. Warren ◽  
Kandace K. Fleming
Keyword(s):  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Cognitive Abilities ◽  
Fragile X ◽  
Vineland Adaptive Behavior Scales ◽  
Autistic Behavior ◽  
Relationship Of ◽  
The Relationship ◽  
Autistic Behaviors ◽  
Vineland Adaptive Behavior

Abstract This study explores if children with fragile X syndrome (FXS) show advances, declines, or plateaus in adaptive behavior over time and the relationship of nonverbal cognitive abilities and autistic behavior on these trajectories. Parents of 55 children with FXS completed the Vineland Adaptive Behavior Scales (Sparrow, Balla, & Cicchetti, 1984; Sparrow, Cicchetti, & Balla, 2005) between 3 and 6 times from 2 to 10 years of age. Using raw scores, results indicate that about half of the sample showed advances in adaptive behavior, whereas the other half showed declines, indicating a regression in skills. Children who were more cognitively advanced and had less autistic behaviors had higher trajectories. Understanding the developmental course of adaptive behavior in FXS has implications for educational planning and intervention, especially for those children showing declines.

Specification of the Neurobehavioral Phenotype in Males with Fragile X Syndrome

PEDIATRICS ◽  
1995 ◽  
Vol 95 (5) ◽  
pp. 744-752 ◽  
Author(s):  
Thomas L. Baumgardner ◽  
Allan L. Reiss ◽  
Lisa S. Freund ◽  
Michael T. Abrams
Keyword(s):  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Fragile X ◽  
Specific Treatment ◽  
Distinct Pattern ◽  
Aberrant Behavior ◽  
Vineland Adaptive Behavior Scales ◽  
Aberrant Behavior Checklist ◽  
Symptom Pattern ◽  
Vineland Adaptive Behavior

Objective. A controlled clinical study was designed to identify the neurobehavioral profile that is specific to males with fragile X syndrome. Design. Thirty-one males with fragile X syndrome and 30 age and IQ-matched male controls were evaluated with instruments that assess multiple domains of adaptive functioning and problem behaviors. The Vineland Adaptive Behavior Scales and the Aberrant Behavior Checklist were selected for their dimensional scaling of behavioral ratings. Results. Parent and Teacher versions of the Aberrant Behavior Checklist demonstrated a profile of behaviors specific to males with fragile X syndrome characterized by significantly higher levels of hyperactivity, stereotypic movements, and unusual speech. The Vineland Adaptive Behavior Scales revealed no fragile X-specific profile of adaptive skills development. Conclusions. The distinct pattern of aberrant behaviors observed among males with fragile X emphasizes the importance of drawing subtype distinctions within the classification of individuals with mental retardation on the basis of underlying etiology. For clinical research, specifying the fragile X phenotype is a vital part in the effort to elucidate the neurodevelopmental pathways of normal behavior and psychopathology. Understanding the fragile X symptom pattern is essential for designing symptom-specific treatment interventions, as well as for research into the efficacy of interventions strategies.

scholarly journals Study of the Interaction between Executive Function and Adaptive Behavior at School in Girls with Fragile X Syndrome

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1108
Author(s):  
Lorena Joga-Elvira ◽  
Jennifer Martinez-Olmo ◽  
María-Luisa Joga ◽  
Carlos Jacas ◽  
Ana Roche-Martínez ◽  
...  
Keyword(s):  
Executive Function ◽  
Executive Functions ◽  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Neuropsychological Tests ◽  
Rating Scale ◽  
Fragile X ◽  
School Setting ◽  
Control Group ◽  
The Relationship

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7–16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale). The results show that there is a greater interaction between some areas of executive function (cognitive flexibility, auditory attention, and visual abstraction capacity) and certain areas of adaptive behavior (conceptual, practical, social, and total domains) in the FXS group than in the control group. These results suggest that an alteration in the executive functions was affecting the daily functioning of the girls with FXS to a greater extent.

scholarly journals Autism Profiles of Males With Fragile X Syndrome

2008 ◽  
Vol 113 (6) ◽  
pp. 427-438 ◽  
Author(s):  
Susan W. Harris ◽  
David Hessl ◽  
Beth Goodlin-Jones ◽  
Jessica Ferranti ◽  
Susan Bacalman ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Diagnosis ◽  
Cgg Repeat ◽  
Molecular Features ◽  
Fmr1 Mrna ◽  
Two Measures ◽  
Dsm Iv ◽  
Relationship Of ◽  
The Relationship

Abstract Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria for PDD-NOS. The classifications on the ADOS and DSM-IV-TR were most similar, whereas the ADI-R classified subjects as autistic much more frequently. We further investigated the relationship of both FMRP and FMR1 mRNA to symptoms of autism in this cohort and found no significant relationship between the measures of autism and molecular features, including FMRP, FMR1 mRNA, and CGG repeat number.

Health Supervision for Children With Fragile X Syndrome

PEDIATRICS ◽  
1996 ◽  
Vol 98 (2) ◽  
pp. 297-300
Author(s):  
Keyword(s):  
Mental Retardation ◽  
Developmental Delay ◽  
Fragile X Syndrome ◽  
X Chromosome ◽  
Dna Analysis ◽  
Fragile Site ◽  
Fragile X ◽  
Physical Features ◽  
Relationship Of ◽  
The Relationship

This set of guidelines is designed to assist pediatricians in caring for children with fragile X syndrome confirmed by DNA analysis (Table). Occasionally pediatricians are called on to advise a pregnant woman who has been informed of a prenatal diagnosis of fragile X syndrome. Therefore, guidelines are also offered for this situation. Fragile X syndrome is usually diagnosed during childhood and is characterized by developmental delay or mental retardation, characteristic physical features, and abnormal behavioral patterns.1,2 The distinctive fragile site on the X chromosome was first described in 1969 as a discontinuous site on the long arm of the X chromosome present after cell culture under folate-deficient conditions. In 1977 the relationship of this site to X-linked mental retardation was noted, and fragile X syndrome began to be defined. Since that time, the cytogenetic, molecular, and clinical features of the condition have been more clearly defined,3 and it is now recognized as the most common hereditary cause of mental retardation. Its frequency has been estimated to be approximately per 2500 to 1 per 1250 males and 1 per 5000 to 1 per 1600 females. The phenotype of fragile X syndrome in males often has a number of distinctive, recognizable features, including developmental delay or mental retardation, a prominent forehead, a long, thin face and a prominent jaw that appear late in childhood or early adolescence, large protuberant and slightly dysmorphic ears, and the presence of or ultimate development of macro-orchidism. This phenotype can be very subtle, is not always apparent, and becomes more identifiable with age.2

Developmental Trajectories of Young Girls With Fragile X Syndrome

2009 ◽  
Vol 114 (3) ◽  
pp. 161-171 ◽  
Author(s):  
Deborah D. Hatton ◽  
Anne Wheeler ◽  
John Sideris ◽  
Kelly Sullivan ◽  
Alison Reichardt ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Developmental Trajectories ◽  
Developmental Outcomes ◽  
Small Sample ◽  
Considerable Variability ◽  
Full Mutation ◽  
Autistic Behavior ◽  
Young Girls ◽  
Autistic Behaviors

Abstract To describe the early phenotype of girls with full mutation fragile X, we used 54 observations of 15 girls between the ages of 6 months and 9 years to examine developmental trajectories as measured by the Battelle Development Inventory. In this sample, autistic behavior was associated with poorer developmental outcomes, primarily due to interactions of age with autistic behavior, even though autistic behavior, measured continuously, was relatively mild. Although this small sample, ascertained primarily through male relatives with fragile X syndrome, limits generalizability, considerable variability in developmental outcome in young girls was documented. In addition, findings support previous research suggesting that even mild autistic behaviors in girls can be associated with developmental outcomes.

scholarly journals Implicit Discrimination of Basic Facial Expressions of Positive/Negative Emotion in Fragile X Syndrome and Autism Spectrum Disorder

2015 ◽  
Vol 120 (4) ◽  
pp. 328-345 ◽  
Author(s):  
Hayley Crawford ◽  
Joanna Moss ◽  
Giles M. Anderson ◽  
Chris Oliver ◽  
Joseph P. McCleery
Keyword(s):  
Fragile X Syndrome ◽  
Facial Expressions ◽  
Adaptive Behavior ◽  
Negative Emotion ◽  
Fragile X ◽  
Eye Gaze ◽  
Autism Spectrum ◽  
Verbal Abilities ◽  
Spectrum Disorders ◽  
Vineland Adaptive Behavior

Abstract Fragile X syndrome (FXS) and autism spectrum disorders (ASD) are characterized by impaired social functioning. We examined the spontaneous discrimination of happy and disgusted facial expressions, from neutral faces, in individuals with FXS (n  =  13, Mage  =  19.70) and ASD (n  =  15, Mage  =  11.00) matched on adaptive behavior and verbal abilities measured by the Vineland Adaptive Behavior Scale. Eye gaze to the eyes and mouth of neutral faces was also measured. Results suggest individuals with FXS and ASD distinguish facial expressions spontaneously in the same way. Individuals with FXS looked significantly less at the eye region of neutral faces than individuals with ASD. These results provide insight into similarities and differences in face processing in two neurodevelopmental disorders noted for their similarities in social behavior.

Social Communication and Structural Language of Girls With High-Functioning Autism Spectrum Disorder

2020 ◽  
Vol 51 (4) ◽  
pp. 1139-1155
Author(s):  
Jenny M. Burton ◽  
Nancy A. Creaghead ◽  
Noah Silbert ◽  
Allison Breit-Smith ◽  
Amie W. Duncan ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Adaptive Behavior ◽  
Social Communication ◽  
High Functioning Autism ◽  
Autism Spectrum ◽  
Vineland Adaptive Behavior Scales ◽  
High Functioning ◽  
Expressive Communication ◽  
Vineland Adaptive Behavior ◽  
Structural Language

Purpose The purpose of this study was to characterize social communication and structural language of school-age girls with high-functioning autism spectrum disorder (HF-ASD) compared to a matched group of girls who are typically developing (TD). Method Participants were 37 girls between 7;5 and 15;2 (years;months)—18 HF-ASD and 19 TD. Children completed the Test of Pragmatic Language–Second Edition (TOPL-2) and Clinical Evaluation of Language Fundamentals–Fifth Edition. Parents completed the Children's Communication Checklist–2 United States Edition (CCC-2) and Receptive and Expressive Communication subdomains of the Vineland Adaptive Behavior Scales–Second Edition. Results In the area of social communication, girls with HF-ASD earned significantly lower scores and were more often classified as having an impairment on the TOPL-2 and the CCC-2. However, 28% and 33% earned average scores on the TOPL-2 and the CCC-2, respectively. In the area of structural language, no significant differences were found between groups on Clinical Evaluation of Language Fundamentals–Fifth Edition indexes. In contrast, girls with HF-ASD earned significantly lower scores and were more often classified as having an impairment on the Vineland Adaptive Behavior Scales–Second Edition. Sixty-one percent and 83% scored below average on the Receptive and Expressive Communication subdomains, respectively. Conclusions It has been argued that girls with HF-ASD, when compared to boys with HF-ASD, may have advantages for social communication and structural language that mask their impairments. However, when compared to girls who are TD, girls with HF-ASD demonstrated impaired social communication and structural language. Clinicians should include and carefully examine multiple sources of information when assessing girls with HF-ASD.

Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior

2021 ◽  
Author(s):  
Lorena Joga‐Elvira ◽  
Ana Roche‐Martínez ◽  
María‐Luisa Joga ◽  
Carlos Jacas‐Escarcelle ◽  
Carme Brun‐Gasca
Keyword(s):  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Fragile X ◽  
Young Females ◽  
Neurocognitive Profile

scholarly journals Heart Activity and Autistic Behavior in Infants and Toddlers With Fragile X Syndrome

2012 ◽  
Vol 117 (2) ◽  
pp. 90-102 ◽  
Author(s):  
Jane E. Roberts ◽  
Bridgette Tonnsen ◽  
Ashley Robinson ◽  
Svetlana V. Shinkareva
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Physiological Arousal ◽  
First Year ◽  
Typically Developing ◽  
Infants And Toddlers ◽  
Autistic Behavior ◽  
Endogenous Factors ◽  
Linear Effect ◽  
Mental Retardation Protein

Abstract The present study contrasted physiological arousal in infants and toddlers with fragile X syndrome to typically developing control participants and examined physiological predictors early in development to autism severity later in development in fragile X syndrome. Thirty-one males with fragile X syndrome (ages 8–40 months) and 25 age-matched control participants were included. The group with fragile X syndrome showed shorter interbeat intervals (IBIs), lower vagal tone (VT), and less modulation of IBI. Data suggested a nonlinear effect with IBI and autistic behavior; however, a linear effect with VT and autistic behavior emerged. These findings suggest that atypical physiological arousal emerges within the first year and predicts severity of autistic behavior in fragile X syndrome. These relationships are complex and dynamic, likely reflecting endogenous factors assumed to reflect atypical brain function secondary to reduced fragile X mental retardation protein. This research has important implications for the early identification and treatment of autistic behaviors in young children with fragile X syndrome.

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